Objective: Genetic components play important roles in the incidence and development of ankylosing spondylitis (AS). Aminopeptidase regulator of tumor necrosis factor receptor shedding 1 (ERAP1) was recently found to be associated with AS in North American and British cohorts. We evaluated whether ERAP1 is associated with AS in a Chinese Han population.
Methods: A sample of 50 patients and 50 healthy controls was recruited for preliminary screening for informative single-nucleotide polymorphisms (SNP). Then 6 SNP of suggestive significance in the initial screening were followed up in a large sample of 471 patients with AS and 456 ethnically matched controls. Diagnosis of AS followed the 1984 modified New York criteria. Linkage disequilibrium coefficient (D' and r(2)) and haplotypes were estimated by Haploview. Result. Two SNP (rs27434, p = 0.00039, and rs27529, p = 0.0083) in ERAP1 other than that reported previously were found to be significantly associated with AS. Haplotype analysis using 5 SNP within 1 linkage disequilibrium block identified 2 risk haplotypes (GATGT and GACGT) and 1 protective haplotype (GGTGT) for AS.
Conclusion: Our study demonstrated that 2 novel SNP in ERAP1 were associated with AS in the Han Chinese population, suggesting that ERAP1 might confer genetic risk for AS in Han Chinese through the common mechanism shared by different populations, although the AS-associated SNP in ERAP1 might be population-specific.